Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3854
Gene name	Keratin 6B
Gene symbol	KRT6B
Synonyms (NCBI Gene)	CK-6BCK6BK6BKRTL1PC2PC4
Chromosome	12
Chromosome location	12q13.13
Summary	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified ep

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs60627726	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607472	TTG>-	Pathogenic	Inframe deletion, coding sequence variant
rs267607473	C>T	Pathogenic	Missense variant, coding sequence variant
rs1131691901	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1592169234	A>C	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020647	hsa-miR-155-5p	Proteomics	18668040
MIRT028499	hsa-miR-30a-5p	Proteomics	18668040
MIRT2258890	hsa-miR-1200	CLIP-seq
MIRT2258891	hsa-miR-3659	CLIP-seq
MIRT2258892	hsa-miR-4280	CLIP-seq
MIRT2258893	hsa-miR-4324	CLIP-seq
MIRT2258894	hsa-miR-4506	CLIP-seq
MIRT2258895	hsa-miR-4658	CLIP-seq
MIRT2258896	hsa-miR-544b	CLIP-seq
MIRT2258897	hsa-miR-574-5p	CLIP-seq
MIRT2559529	hsa-miR-3150b-3p	CLIP-seq
MIRT2559530	hsa-miR-4689	CLIP-seq
MIRT2559531	hsa-miR-4721	CLIP-seq
MIRT2559532	hsa-miR-4784	CLIP-seq
MIRT2258896	hsa-miR-544b	CLIP-seq
MIRT2559529	hsa-miR-3150b-3p	CLIP-seq
MIRT2559530	hsa-miR-4689	CLIP-seq
MIRT2559531	hsa-miR-4721	CLIP-seq
MIRT2559532	hsa-miR-4784	CLIP-seq
MIRT2258896	hsa-miR-544b	CLIP-seq
MIRT2683695	hsa-miR-760	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	9618173
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 32296183
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0007398	Process	Ectoderm development	TAS	9618173
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0031424	Process	Keratinization	IBA
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
148042	6444	ENSG00000185479

P04259

Protein name

Keratin, type II cytoskeletal 6B (Cytokeratin-6B) (CK-6B) (Keratin-6B) (K6B) (Type-II keratin Kb10)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16208	Keratin_2_head	17 → 159	Keratin type II head	Family
PF00038	Filament	162 → 475	Intermediate filament protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.

Sequence

MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSISVSRSRGSGGLGGACGGAGFGSRS
LYGLGGSKRISIGGGSCAISGGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAG
GFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPAIQRVRAEEREQIKTLNNKFASFIDK
VRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDNIVGERGRLDSELR
NMQDLVEDLKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRA
LYDAELSQMQTHISDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKY
EELQITAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKKQCANLQAAIADAEQRGEMAL
KDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEG
VGQVNISVVQSTVSSGYGGASGVGSGLGLGGGSSYSYGSGLGVGGGFSSSSGRATGGGLS
SVGGGSSTIKYTTTSSSSRKSYKH

Sequence length

564

Interactions

View interactions

	Reactome
			Keratinization Formation of the cornified envelope

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pachyonychia congenita 4	Pathogenic; Likely pathogenic	rs60627726, rs267607473, rs267607472, rs1592169234	RCV000015739 RCV002483085 RCV002496747 RCV001007639

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
KRT6B-related disorder	Benign; Likely benign	rs144860693, rs437014, rs428894, rs61746354, rs138479175, rs425827, rs142940927, rs138988810, rs149632179, rs146391553, rs1940410482, rs61914500, rs747994676, rs780076492, rs778816046 View all (9 more)	RCV003966241 RCV003976122 RCV003976123 RCV003984213 RCV003923785 RCV004757515 RCV004757507 RCV003916278 RCV003906359 RCV003926637 RCV003896580 RCV003979749 RCV003914235 RCV003917176 RCV003919439 RCV003919487 RCV003926938 RCV003979087 RCV003969103 RCV003983144 RCV004757354 RCV003968337 RCV003933100 RCV003918528
Pachyonychia congenita 2	Benign	rs61745883	RCV000602544
Uterine carcinosarcoma	Benign	rs437014	RCV005920626

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	20839314
Breast Neoplasms	Associate	25012653, 40650045
Carcinoma Basal Cell	Associate	31047981
Carcinoma Ovarian Epithelial	Associate	26840454
Carcinoma Renal Cell	Associate	26464664
Carcinoma Squamous Cell	Associate	20839314
Colorectal Neoplasms	Associate	34911835
Diabetic Nephropathies	Associate	36444934
Inflammation	Inhibit	36839242
Lung Neoplasms	Stimulate	28619761
Lung Neoplasms	Associate	37079368
Melanoma	Associate	36553569
Nail Diseases	Associate	19609311
Nasal Polyps	Associate	23709377
Neoplasm Metastasis	Stimulate	35794606
Neoplasms	Associate	35794606, 37079368
Pachyonychia Congenita	Associate	10571744, 11348474, 11886499, 17511954, 19609311, 21160496, 21326300, 21390048, 24611874, 25656049, 28648685, 34116063, 34724947, 36116508, 36658016
Squamous Cell Carcinoma of Head and Neck	Associate	32468250, 40650045
Urinary Bladder Neoplasms	Associate	31233191, 35794606
Warts	Associate	32038103

KRT6B (keratin 6B)